Timo Lassmann

15 Hospital Ave
Nedlands, WA 6009, Australia

Last Updated: 09/26/2026

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Found 107 publications

AI succeeds in diagnosing rare diseases.

AI succeeds in diagnosing rare diseases.

Journal: Nature
Published: February 18, 2026

Mesothelioma location influences the tumour microenvironment and immune checkpoint therapy response in preclinical models.

Mesothelioma location influences the tumour microenvironment and immune checkpoint therapy response in preclinical models.

Journal: Scientific reports
Published: November 03, 2025

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease.

Journal: Human genomics
Published: October 02, 2025

The United Nations convention on rare diseases-A framework for research prioritization.

The United Nations convention on rare diseases-A framework for research prioritization.

Journal: Frontiers in public health
Published: September 16, 2025

GeneInsight: Condensing gene set knowledge via language models.

GeneInsight: Condensing gene set knowledge via language models.

Journal: PLoS computational biology
Published: September 02, 2025

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism.

Journal: Molecular medicine (Cambridge, Mass.)
Published: May 23, 2025

Author Correction: An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.

Author Correction: An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA.

Journal: Nature
Published: January 28, 2025

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics
Published: October 21, 2024

Mining single-cell data for cell type-disease associations.

Mining single-cell data for cell type-disease associations.

Journal: NAR genomics and bioinformatics
Published: July 04, 2024

Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes.

Immune checkpoint therapy responders display early clonal expansion of tumor infiltrating lymphocytes.

Journal: Oncoimmunology
Published: April 30, 2024

SampleExplorer: using language models to discover relevant transcriptome data.

SampleExplorer: using language models to discover relevant transcriptome data.

Journal: Bioinformatics (Oxford, England)
Published: April 11, 2024

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling.

Journal: Molecular autism
Published: April 03, 2024
Showing 1-12 of 107

Last Updated: 09/26/2026